Article
Interplay between TERT promoter mutations and methylation culminates in chromatin accessibility and TERT expression.
PloS one - 1 Jan 2020
Salgado Catarina, Roelse Celine, Nell Rogier, Gruis Nelleke, van Doorn Remco, van der Velden Pieter
Abstract excerpt
The telomerase reverse transcriptase (TERT) gene is responsible for telomere maintenance in germline and stem cells, and is re-expressed in 90% of human cancers. CpG methylation in the TERT promoter (TERTp) was correlated with TERT mRNA expression. Furthermore, two hotspot mutations in TERTp, dubbed C228T and C250T, have been revealed to facilitate binding of transcription factor ETS/TCF and subsequent TERT...
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